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Table 6 Treatable causes in children

From: Guidelines on the diagnosis and management of the progressive ataxias

6.1 Glucose transporter 1 deficiency  
 Recommendation Grade
If Glut-1 DS is diagnosed treat with a ketogenic diet. D [49, 50]
6.2 Hypobetalipoproteinaemia
 Recommendations Grade
Consider management of the moderate form of hypobetalipoproteinemia by reducing the proportion of fat in the patient’s diet and vitamin E supplementation. GPP
6.3 Hartnup disease
 Recommendation Grade
Consider treating Hartnup disease with nicotinamide or tryptophan-rich diet, and advise patients on a high protein diet, sunlight protection and avoidance of photosensitizing drugs. GPP
6.4 Biotinidase deficiency
 Recommendation Grade
Treat patients diagnosed with biotinidase deficiency with biotin. GPP
6.5 Pyruvate deficiency
 Recommendation Grade
Consider treatment with thiamine, carnitine or lipoic acid and advising on a ketogenic diet. GPP
6.6 Structural disorders
 Recommendation Grade
If ataxia is due to structural causes a referral for neurosurgical treatment may be recommended. GPP